Associated Papers
Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12-Year-Old Girl With Goltz-Gorlin Syndrome.
Bolzon A et al.
Clinical Case Reports, 2026
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.
Arlt A et al.
Orphanet Journal of Rare Diseases, 2022
35101074 (PubMed )
Supplement: 13023_2021_2068_MOESM1_ESM.xlsx › Tabelle1
Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum.
Yesodharan D et al.
Indian Journal of Pediatrics, 2018
Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature.
Frisk S et al.
Clinical Case Reports, 2018
Focal dermal hypoplasia due to a novel mutation in a boy with Klinefelter syndrome.
Alkindi S et al.
Pediatric Dermatology, 0
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